Phát hiện 4 biến thể trên 3 gen PAI1, MTHFR, FVL liên quan chứng tăng đông máu thrombophilia bằng kỹ thuật ARMS – PCR đa mồi

Trong nghiên cứu này, sử dụng kĩ thuật khuếch đại đặc hiệu allen (ARMS – PCR) để phân tích 4 biến thể ở 3 gen có tần số biến đổi cao là Methylenetetrahydrofolate reductase (MTHFR C677T và MTHFR A1298C), Factor V Leiden (FVL C1691T) và Plasminogen activator inhibitor-1 (PAI-1 4G/5G). | VNU Journal of Science Medical and Pharmaceutical Sciences Vol. 37 No. 4 2021 54-61 Original Article Four Variations Detected in 3 Genes Related to Thrombophilia by Multiplex ARMS PCR Tran Thi Quynh Trang Nguyen Thuy Ngan Nguyen Thi Than Pham The Tung Vo Thi Thuong Lan VNU University of Science 334 Nguyen Trai Thanh Xuan Hanoi Vietnam Received 03 May 2021 Revised 03 June 2021 Accepted 27 August 2021 Abstract Thrombophilia is a condition that may cause venous obstruction leading to serious illnesses such as stroke respiratory failure and even death. This condition is hereditary or related to the immune system. Inherited thrombophilia is screened by analysing genetic variants allele . In this study we analyse 4 variations in 3 genes which occur at high variable frequency namely Methytetrahydrofolate Reductase MTHFR C677T MTHFR A1298C Factor V Leiden FVL C1691T and Plasminogen Activator Inhibitor 1 PAI-1 5G 4G using allele-specific polymerase chain reaction ARMS-PCR . The primers were designed using FastPCR program and PCR conditions were optimized to identify 8 alleles of 4 variants through 3 multiplex ARMS - PCR reactions. The accuracy of the ARMS - PCR results was confirmed by Sanger sequencing and the real time PCR commercial kit SNP . Mastering the allele specific PCR technique contributes to the survey of genetic variations in the Vietnamese population in order to screen and treat thrombophilia- related diseases. Keywords Thrombophilia allele-specific polymerase chain reaction ARMS-PCR variants MTHFR C677T MTHFR A1298C FVL C1691T PAI-1 4G 5G. _ Corresponding author. E-mail address vothithuonglan@ https 2588-1132 54 T. T. Q. Trang et al. VNU Journal of Science Medical and Pharmaceutical Sciences Vol. 37 No. 4 2021 54-61 55 Phát hiện 4 biến thể trên 3 gen PAI1 MTHFR FVL liên quan chứng tăng đông máu thrombophilia bằng kỹ thuật ARMS PCR đa mồi Trần Thị Quỳnh Trang Nguyễn Thùy Ngân Nguyễn Thị Thân Phạm Thế Tùng Võ Thị Thương .